Canonical Allele Identifier: CA515263870

Gene: SHANK3

Linked Data

• dbSNP Id: rs2083293670
• gnomAD v4: 22-50721905-G-A
• COSMIC: COSM5538894 ; COSM5538895
• MyVariant Identifiers: chr22:g.51160333G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721905G>A , CM000684.2:g.50721905G>A	GRCh38
NC_000022.10:g.51160333G>A , CM000684.1:g.51160333G>A	GRCh37
NC_000022.9:g.49507199G>A	NCBI36
NG_008607.2:g.52551G>A
NG_070230.1:g.57689G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3673G>A	ENSP00000489147.2:p.Glu1225Lys
ENST00000414786.7:n.4257G>A
ENST00000445220.7:c.2725G>A	ENSP00000489407.2:p.Glu909Lys
ENST00000664402.2:c.2215G>A	ENSP00000499475.1:p.Glu739Lys
ENST00000673971.2:c.*2671G>A	ENSP00000501192.1:n.*2671G>A
ENST00000445220.6:c.2725G>A	ENSP00000489407.2:p.Glu909Lys
ENST00000262795.6:c.3673G>A	ENSP00000489147.2:p.Glu1225Lys
ENST00000664402.1:c.2215G>A	ENSP00000499475.1:p.Glu739Lys
ENST00000673971.1:c.*2671G>A	ENSP00000501192.1:n.*2671G>A
ENST00000262795.5:c.4069G>A	ENSP00000489147.1:p.Glu1357Lys
ENST00000414786.6:n.4257G>A
ENST00000445220.5:c.4051G>A	ENSP00000489407.1:p.Glu1351Lys